Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
Improving reporting standards for polygenic scores in risk prediction studies.
Nature
; 591(7849): 211-219, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33692554
3.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
; 26(2): 101029, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982373
4.
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Am J Hum Genet
; 107(1): 72-82, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504544
5.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Genet Med
; 24(6): 1328-1335, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341655
6.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507016
7.
Genomic medicine year in review: 2023.
Am J Hum Genet
; 110(12): 1992-1995, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38065071
8.
Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection.
Genet Med
; 23(9): 1783-1788, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33972721
9.
Genomic Medicine Year in Review: 2022.
Am J Hum Genet
; 109(12): 2101-2104, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459977
10.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Am J Hum Genet
; 100(6): 895-906, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552198
11.
Genomic medicine year in review: 2021.
Am J Hum Genet
; 108(12): 2210-2214, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861172
12.
Development of a consent resource for genomic data sharing in the clinical setting.
Genet Med
; 21(1): 81-88, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899502
13.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181607
14.
The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data.
Nucleic Acids Res
; 45(D1): D819-D826, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899644
15.
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
Hum Mutat
; 39(11): 1713-1720, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311373
16.
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Hum Mutat
; 39(11): 1677-1685, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311382
17.
ClinGen--the Clinical Genome Resource.
N Engl J Med
; 372(23): 2235-42, 2015 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014595
18.
Research standardization tools: pregnancy measures in the PhenX Toolkit.
Am J Obstet Gynecol
; 217(3): 249-262, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28578176
19.
A mechanism for controlled access to GWAS data: experience of the GAIN Data Access Committee.
Am J Hum Genet
; 92(4): 479-88, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561843
20.
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Genet Med
; 18(12): 1258-1268, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124788